This post is a long one because we learned a lot today and wanted to pass along what we learned. We tried to condense as best as we could, but... If it is too much just skip to the end and check out Owen's band-aid.
Today we went to Children’s Hospital in
One thing we found out about the disorder is that kids with this disorder can appear completely normal and healthy, as in Owen’s case, until they get an illness such as the flu and cannot or will not eat for extended periods of time. When this happens if they are not properly cared for things can get bad really quick.
The geneticist also explained the disorder in more detail. The problem with this disorder is in the mitochondria where fatty acids are broken down. Very long chain fatty acids are in just about everything and are abundant in breast milk. In normal functioning mitochondria the fatty acids enter and move around in the mitochondria and are broken down into shorter chains. Once the fatty acids are broken down they can leave the mitochondria, enter the blood and are harmless. In Owen’s case the very long chain fatty acids cannot be broken down due to a missing enzyme, therefore they are released right back into the blood and these long chains can be toxic when they build-up. Because of Owen’s inability to break down very long chain fatty acids, it is best if we can restrict the amount that he takes in, meaning we have to switch to a special formula. Owen’s new formula contains 89% medium chain fatty acids, which are already in small enough chains that they are unaffected by the missing enzyme which is only necessary for breaking down the very long chain fatty acids.
They also opted to rerun the same tests that were done to lead up to this visit. It was explained to us that it is possible that his body may have corrected this problem on it’s own at this point and they wanted to double check since these tests were relatively painless. The final test was not so painless! They took a skin sample, meaning they took a 3mm diameter tube and cut a chunk of skin out of Owen’s hip. If you ask Owen though the worst part was the shot to numb the area. The tests that they are rerunning should take about two weeks to come back, a month on the DNA test and 2-3 months on the skin sample test. Hopefully as the results come in they will be good news, however the only test that will absolutely confirm that he does not have this disorder is the test that will take 2-3 months, so in the meantime we will make the adjustments and keep a close eye on our little man.
Owen wasn't crazy about having blood drawn, but I think he liked his Daffy Duck band-aid
Thanks for all of your thoughts and prayers